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Carbohydrate metabolism disease

MedGen UID:
472889
Concept ID:
C0149670
Disease or Syndrome
Synonym: Disorder of carbohydrate metabolism
SNOMED CT: Disorder of carbohydrate metabolism (20957000)
 
Monarch Initiative: MONDO:0037792

Definition

An inherited or acquired disorder that affects the metabolism of the carbohydrates. Representative examples include diabetes mellitus, glycogen storage disease, mucopolysaccharidoses, and lactose intolerance. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
Follow this link to review classifications for Carbohydrate metabolism disease in Orphanet.

Professional guidelines

PubMed

Succoio M, Sacchettini R, Rossi A, Parenti G, Ruoppolo M
Biomolecules 2022 Jul 11;12(7) doi: 10.3390/biom12070968. PMID: 35883524Free PMC Article
Wharton S, Lau DCW, Vallis M, Sharma AM, Biertho L, Campbell-Scherer D, Adamo K, Alberga A, Bell R, Boulé N, Boyling E, Brown J, Calam B, Clarke C, Crowshoe L, Divalentino D, Forhan M, Freedhoff Y, Gagner M, Glazer S, Grand C, Green M, Hahn M, Hawa R, Henderson R, Hong D, Hung P, Janssen I, Jacklin K, Johnson-Stoklossa C, Kemp A, Kirk S, Kuk J, Langlois MF, Lear S, McInnes A, Macklin D, Naji L, Manjoo P, Morin MP, Nerenberg K, Patton I, Pedersen S, Pereira L, Piccinini-Vallis H, Poddar M, Poirier P, Prud'homme D, Salas XR, Rueda-Clausen C, Russell-Mayhew S, Shiau J, Sherifali D, Sievenpiper J, Sockalingam S, Taylor V, Toth E, Twells L, Tytus R, Walji S, Walker L, Wicklum S
CMAJ 2020 Aug 4;192(31):E875-E891. doi: 10.1503/cmaj.191707. PMID: 32753461Free PMC Article
Gibson GR, Hutkins R, Sanders ME, Prescott SL, Reimer RA, Salminen SJ, Scott K, Stanton C, Swanson KS, Cani PD, Verbeke K, Reid G
Nat Rev Gastroenterol Hepatol 2017 Aug;14(8):491-502. Epub 2017 Jun 14 doi: 10.1038/nrgastro.2017.75. PMID: 28611480

Recent clinical studies

Etiology

Heremans IP, Caligiore F, Gerin I, Bury M, Lutz M, Graff J, Stroobant V, Vertommen D, Teleman AA, Van Schaftingen E, Bommer GT
Proc Natl Acad Sci U S A 2022 Jan 25;119(4) doi: 10.1073/pnas.2111338119. PMID: 35046029Free PMC Article
Hammer HF, Fox MR, Keller J, Salvatore S, Basilisco G, Hammer J, Lopetuso L, Benninga M, Borrelli O, Dumitrascu D, Hauser B, Herszenyi L, Nakov R, Pohl D, Thapar N, Sonyi M; European H2-CH4-breath test group
United European Gastroenterol J 2022 Feb;10(1):15-40. Epub 2021 Aug 25 doi: 10.1002/ueg2.12133. PMID: 34431620Free PMC Article
Blaak EE, Canfora EE, Theis S, Frost G, Groen AK, Mithieux G, Nauta A, Scott K, Stahl B, van Harsselaar J, van Tol R, Vaughan EE, Verbeke K
Benef Microbes 2020 Sep 1;11(5):411-455. Epub 2020 Aug 31 doi: 10.3920/BM2020.0057. PMID: 32865024
Garaulet M, Qian J, Florez JC, Arendt J, Saxena R, Scheer FAJL
Trends Endocrinol Metab 2020 Mar;31(3):192-204. Epub 2020 Jan 1 doi: 10.1016/j.tem.2019.11.011. PMID: 31901302Free PMC Article
Wong JM, de Souza R, Kendall CW, Emam A, Jenkins DJ
J Clin Gastroenterol 2006 Mar;40(3):235-43. doi: 10.1097/00004836-200603000-00015. PMID: 16633129

Diagnosis

Takeuchi T, Kubota T, Nakanishi Y, Tsugawa H, Suda W, Kwon AT, Yazaki J, Ikeda K, Nemoto S, Mochizuki Y, Kitami T, Yugi K, Mizuno Y, Yamamichi N, Yamazaki T, Takamoto I, Kubota N, Kadowaki T, Arner E, Carninci P, Ohara O, Arita M, Hattori M, Koyasu S, Ohno H
Nature 2023 Sep;621(7978):389-395. Epub 2023 Aug 30 doi: 10.1038/s41586-023-06466-x. PMID: 37648852Free PMC Article
Cunnane SC, Trushina E, Morland C, Prigione A, Casadesus G, Andrews ZB, Beal MF, Bergersen LH, Brinton RD, de la Monte S, Eckert A, Harvey J, Jeggo R, Jhamandas JH, Kann O, la Cour CM, Martin WF, Mithieux G, Moreira PI, Murphy MP, Nave KA, Nuriel T, Oliet SHR, Saudou F, Mattson MP, Swerdlow RH, Millan MJ
Nat Rev Drug Discov 2020 Sep;19(9):609-633. Epub 2020 Jul 24 doi: 10.1038/s41573-020-0072-x. PMID: 32709961Free PMC Article
Cipriani C, Colangelo L, Santori R, Renella M, Mastrantonio M, Minisola S, Pepe J
Front Endocrinol (Lausanne) 2020;11:122. Epub 2020 Mar 24 doi: 10.3389/fendo.2020.00122. PMID: 32265831Free PMC Article
Poher AL, Tschöp MH, Müller TD
Peptides 2018 Feb;100:236-242. doi: 10.1016/j.peptides.2017.12.015. PMID: 29412824Free PMC Article
Mul JD, Stanford KI, Hirshman MF, Goodyear LJ
Prog Mol Biol Transl Sci 2015;135:17-37. Epub 2015 Aug 20 doi: 10.1016/bs.pmbts.2015.07.020. PMID: 26477909Free PMC Article

Therapy

Greff D, Juhász AE, Váncsa S, Váradi A, Sipos Z, Szinte J, Park S, Hegyi P, Nyirády P, Ács N, Várbíró S, Horváth EM
Reprod Biol Endocrinol 2023 Jan 26;21(1):10. doi: 10.1186/s12958-023-01055-z. PMID: 36703143Free PMC Article
Hosomi K, Saito M, Park J, Murakami H, Shibata N, Ando M, Nagatake T, Konishi K, Ohno H, Tanisawa K, Mohsen A, Chen YA, Kawashima H, Natsume-Kitatani Y, Oka Y, Shimizu H, Furuta M, Tojima Y, Sawane K, Saika A, Kondo S, Yonejima Y, Takeyama H, Matsutani A, Mizuguchi K, Miyachi M, Kunisawa J
Nat Commun 2022 Aug 18;13(1):4477. doi: 10.1038/s41467-022-32015-7. PMID: 35982037Free PMC Article
Dimidi E, Cox SR, Rossi M, Whelan K
Nutrients 2019 Aug 5;11(8) doi: 10.3390/nu11081806. PMID: 31387262Free PMC Article
Poher AL, Tschöp MH, Müller TD
Peptides 2018 Feb;100:236-242. doi: 10.1016/j.peptides.2017.12.015. PMID: 29412824Free PMC Article
Coelho AI, Berry GT, Rubio-Gozalbo ME
Curr Opin Clin Nutr Metab Care 2015 Jul;18(4):422-7. doi: 10.1097/MCO.0000000000000189. PMID: 26001656

Prognosis

Yue SW, Liu HL, Su HF, Luo C, Liang HF, Zhang BX, Zhang W
Mol Cancer 2023 Aug 15;22(1):137. doi: 10.1186/s12943-023-01841-8. PMID: 37582735Free PMC Article
Rej A, Sanders DS, Shaw CC, Buckle R, Trott N, Agrawal A, Aziz I
Clin Gastroenterol Hepatol 2022 Dec;20(12):2876-2887.e15. Epub 2022 Feb 28 doi: 10.1016/j.cgh.2022.02.045. PMID: 35240330
Kasprzak A
Int J Mol Sci 2021 Jun 16;22(12) doi: 10.3390/ijms22126434. PMID: 34208601Free PMC Article
Altassan R, Péanne R, Jaeken J, Barone R, Bidet M, Borgel D, Brasil S, Cassiman D, Cechova A, Coman D, Corral J, Correia J, de la Morena-Barrio ME, de Lonlay P, Dos Reis V, Ferreira CR, Fiumara A, Francisco R, Freeze H, Funke S, Gardeitchik T, Gert M, Girad M, Giros M, Grünewald S, Hernández-Caselles T, Honzik T, Hutter M, Krasnewich D, Lam C, Lee J, Lefeber D, Marques-de-Silva D, Martinez AF, Moravej H, Õunap K, Pascoal C, Pascreau T, Patterson M, Quelhas D, Raymond K, Sarkhail P, Schiff M, Seroczyńska M, Serrano M, Seta N, Sykut-Cegielska J, Thiel C, Tort F, Vals MA, Videira P, Witters P, Zeevaert R, Morava E
J Inherit Metab Dis 2019 Jan;42(1):5-28. doi: 10.1002/jimd.12024. PMID: 30740725
Vajaria BN, Patel PS
Glycoconj J 2017 Apr;34(2):147-156. Epub 2016 Dec 14 doi: 10.1007/s10719-016-9755-2. PMID: 27975160

Clinical prediction guides

Yan P, Liu J, Li Z, Wang J, Zhu Z, Wang L, Yu G
Int J Mol Sci 2023 Dec 25;25(1) doi: 10.3390/ijms25010315. PMID: 38203486Free PMC Article
Radovani B, Gudelj I
Front Immunol 2022;13:893365. Epub 2022 Jun 27 doi: 10.3389/fimmu.2022.893365. PMID: 35833138Free PMC Article
Peng Z, Yi J, Liu X
Nutrients 2022 May 15;14(10) doi: 10.3390/nu14102072. PMID: 35631213Free PMC Article
Guasch-Ferré M, Santos JL, Martínez-González MA, Clish CB, Razquin C, Wang D, Liang L, Li J, Dennis C, Corella D, Muñoz-Bravo C, Romaguera D, Estruch R, Santos-Lozano JM, Castañer O, Alonso-Gómez A, Serra-Majem L, Ros E, Canudas S, Asensio EM, Fitó M, Pierce K, Martínez JA, Salas-Salvadó J, Toledo E, Hu FB, Ruiz-Canela M
Am J Clin Nutr 2020 Apr 1;111(4):835-844. doi: 10.1093/ajcn/nqaa016. PMID: 32060497Free PMC Article
Hamer HM, Jonkers D, Venema K, Vanhoutvin S, Troost FJ, Brummer RJ
Aliment Pharmacol Ther 2008 Jan 15;27(2):104-19. Epub 2007 Oct 25 doi: 10.1111/j.1365-2036.2007.03562.x. PMID: 17973645

Recent systematic reviews

Zhang R, Noronha JC, Khan TA, McGlynn N, Back S, Grant SM, Kendall CWC, Sievenpiper JL
Nutrients 2023 Feb 20;15(4) doi: 10.3390/nu15041050. PMID: 36839408Free PMC Article
Greff D, Juhász AE, Váncsa S, Váradi A, Sipos Z, Szinte J, Park S, Hegyi P, Nyirády P, Ács N, Várbíró S, Horváth EM
Reprod Biol Endocrinol 2023 Jan 26;21(1):10. doi: 10.1186/s12958-023-01055-z. PMID: 36703143Free PMC Article
Chiavaroli L, Lee D, Ahmed A, Cheung A, Khan TA, Blanco S, Mejia, Mirrahimi A, Jenkins DJA, Livesey G, Wolever TMS, Rahelić D, Kahleová H, Salas-Salvadó J, Kendall CWC, Sievenpiper JL
BMJ 2021 Aug 4;374:n1651. doi: 10.1136/bmj.n1651. PMID: 34348965Free PMC Article
Badal VD, Vaccariello ED, Murray ER, Yu KE, Knight R, Jeste DV, Nguyen TT
Nutrients 2020 Dec 7;12(12) doi: 10.3390/nu12123759. PMID: 33297486Free PMC Article
Uusitupa M, Khan TA, Viguiliouk E, Kahleova H, Rivellese AA, Hermansen K, Pfeiffer A, Thanopoulou A, Salas-Salvadó J, Schwab U, Sievenpiper JL
Nutrients 2019 Nov 1;11(11) doi: 10.3390/nu11112611. PMID: 31683759Free PMC Article

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